title: Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.
abstract: Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with the same radiological changes, but without apparent hypotrichosis. We suggest that they should be considered as having a variant form of cartilage-hair hypoplasia, with a clinically distinct phenotype, which could be as common as 'true' cartilage-hair hypoplasia among non-Amish populations. Microscopic examination of the hair may show reduction in the diameter of the hair shaft. This form of metaphyseal dysplasia may result from allelic heterogeneity.
authors.affiliation: Centre for Human Genetics, Liège University, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: G E
authors.initials: GE
authors.lastname: Pierard
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006197:Hair; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography